KEGG   VARIANT: 51434v1
Entry
51434v1                      Variant                               
Name
ANAPC7 mutation
Gene
ANAPC7  anaphase promoting complex subunit 7 [KO:K03354]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606949
Network
nt06512  Chromosome cohesion and segregation
Disease
H02584  Ferguson-Bonni neurodevelopmental syndrome
Reference
  Authors
Ferguson CJ, Urso O, Bodrug T, Gassaway BM, Watson ER, Prabu JR, Lara-Gonzalez P, Martinez-Chacin RC, Wu DY, Brigatti KW, Puffenberger EG, Taylor CM, Haas-Givler B, Jinks RN, Strauss KA, Desai A, Gabel HW, Gygi SP, Schulman BA, Brown NG, Bonni A
  Title
APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
  Journal
Mol Cell 82:90-105.e13 (2022)
DOI:10.1016/j.molcel.2021.11.031
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